Nearly one in four men who have a daughter with Rett syndrome carry mutations linked to the condition in some of their sperm.

Some mutations that contribute to autism and arise spontaneously may be mistaken for inherited mutations.

A new resource details the protein-coding portions of the genomes of 36 popular mouse strains.

A software tool finds possible functions for long RNA molecules that aren’t transcribed into proteins.

A small number of autism genes are located in fragile regions of the genome — those prone to breaking when cells copy DNA.

The largest-ever set of sequences from people with developmental delay has revealed 43 new genetic diagnoses.

In autism research, as in other fields, small sample sizes can lead to false findings. The size of the sample needed for statistical significance depends on the type of study.

The largest autism sequencing study to date implicates 99 genes in the condition — but nearly half have a tighter link to intellectual disability or developmental delay.

A new technique reveals the active genes and the regions that regulate them in thousands of single cells at once.

Variants that control gene expression are often involved in whether a mutation ends up being harmful, and how harmful it is.